Variant report

Variant	esv10175
Chromosome Location	chr6:131814511-131816116
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 66 )
Associated
traits (count: 78 )

Variant overlapped rSNPs/rCNVs (count:66 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2807291	chr6:131814520-131814521	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs538609137	chr6:131814563-131814564	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs2807292	chr6:131814574-131814575	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
4	rs2781644	chr6:131814579-131814580	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
5	rs578260981	chr6:131814604-131814605	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs545414624	chr6:131814654-131814655	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs536176994	chr6:131814655-131814656	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs554322874	chr6:131814658-131814659	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs2608947	chr6:131814664-131814665	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
10	rs188151401	chr6:131814744-131814745	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs12201347	chr6:131814749-131814750	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
12	rs2807293	chr6:131814826-131814827	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
13	rs576878366	chr6:131814840-131814841	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs543851777	chr6:131814849-131814850	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs9398987	chr6:131814865-131814866	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
16	rs72997300	chr6:131814906-131814907	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs1334353	chr6:131814956-131814957	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
18	rs561583182	chr6:131814961-131814962	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs181342805	chr6:131814969-131814970	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs3904568	chr6:131815011-131815012	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
21	rs2807294	chr6:131815040-131815041	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
22	rs76627924	chr6:131815050-131815051	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs113911829	chr6:131815061-131815062	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs532680334	chr6:131815103-131815104	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs550683897	chr6:131815127-131815128	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs4243503	chr6:131815145-131815146	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
27	rs62422520	chr6:131815222-131815223	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs535883661	chr6:131815229-131815230	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs2807295	chr6:131815233-131815234	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
30	rs13362631	chr6:131815246-131815247	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs558755224	chr6:131815263-131815264	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs540894407	chr6:131815268-131815269	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs2246168	chr6:131815296-131815297	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
34	rs189209715	chr6:131815348-131815349	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs2246167	chr6:131815349-131815350	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
36	rs5880062	chr6:131815438-131815439	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs397887789	chr6:131815440-131815441	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs4897522	chr6:131815447-131815448	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs545672677	chr6:131815479-131815480	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs146964937	chr6:131815574-131815575	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs541854356	chr6:131815645-131815646	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs73540358	chr6:131815711-131815712	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs148030735	chr6:131815723-131815724	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs9388905	chr6:131815725-131815726	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs73775653	chr6:131815734-131815735	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs572372184	chr6:131815749-131815750	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs2781648	chr6:131815769-131815770	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
48	rs551026285	chr6:131815773-131815774	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs569027141	chr6:131815804-131815805	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs529998117	chr6:131815870-131815871	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:78)

Disease	PMID	Source
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Biliary cancer	19435499	CNVD
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	21448237	CNVD
Autism	22495311	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Neuroblastoma	18923191	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Melanoma	18172304	CNVD
Cancer	21637783	CNVD
Colorectal cancer	16272173	CNVD
Gastric cancer	17908304	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	19010834	CNVD
Non-small cell lung cancer	21044232	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	16608533	CNVD
Non-small cell lung cancer	21385341	CNVD
Prostate cancer	16705090	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Ependymoma	16718352	CNVD
High-proliferative meningiomas	17937814	CNVD
Intracranial tumor	16823260	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	16272173	CNVD
Prostate cancer	18632612	CNVD
Wilms tumour	21544195	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Glioma	21046410	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Zellweger syndrome	21572526	CNVD
Follicular lymphoma	20505157	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Malignant melanoma	18718029	CNVD
Lung adenocarcinoma	21935476	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21858162	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	17603634	CNVD
Chondromyxoid Fibroma	20696777	CNVD
Cancer	21183584	CNVD
Developmental delay	19490664	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	21785460	CNVD
Kartagener syndrome	16639409	CNVD
Breast cancer	17133270	CNVD
Follicular lymphoma	18703704	CNVD
Neurodevelopmental disorder	22521361	CNVD
small cell lung cancer	20016488	CNVD
Adenoid cystic carcinoma	18698036	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Leukemia	18688285	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Renal cell carcinoma	18592004	CNVD

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:131813400-131815600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr6:131815600-131818600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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